Ignite Creation Date:
2025-12-24 @ 11:47 PM
Ignite Modification Date:
2025-12-25 @ 9:41 PM
Study NCT ID:
NCT04755751
Status:
UNKNOWN
Last Update Posted:
2021-02-16
First Post:
2021-02-10
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
Exercise Capacity in Response to Enzyme Replacement Therapy in Pediatric Pompe Disease.
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'interventionBrowseModule': {'meshes': [{'id': 'D005080', 'term': 'Exercise Test'}], 'ancestors': [{'id': 'D006334', 'term': 'Heart Function Tests'}, {'id': 'D003935', 'term': 'Diagnostic Techniques, Cardiovascular'}, {'id': 'D019937', 'term': 'Diagnostic Techniques and Procedures'}, {'id': 'D003933', 'term': 'Diagnosis'}, {'id': 'D012129', 'term': 'Respiratory Function Tests'}, {'id': 'D003948', 'term': 'Diagnostic Techniques, Respiratory System'}, {'id': 'D016552', 'term': 'Ergometry'}, {'id': 'D008919', 'term': 'Investigative Techniques'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITHOUT_DNA', 'description': 'self-collected blood samples (on a Guthrie card) for enzyme blood levels.'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'OTHER', 'observationalModel': 'CASE_ONLY'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 4}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'UNKNOWN', 'lastKnownStatus': 'RECRUITING', 'startDateStruct': {'date': '2018-06-24', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2021-02', 'completionDateStruct': {'date': '2024-01-01', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2021-02-14', 'studyFirstSubmitDate': '2021-02-10', 'studyFirstSubmitQcDate': '2021-02-14', 'lastUpdatePostDateStruct': {'date': '2021-02-16', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2021-02-16', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2023-01-01', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Exercise capacity', 'timeFrame': '1-6 years', 'description': 'Oxygen uptake evaluated by cardiopulmonary exercise testing (CPET)'}], 'secondaryOutcomes': [{'measure': 'Six minute walk test', 'timeFrame': '1-6 years', 'description': 'The distance gained after six minute of habitual walking.'}, {'measure': 'Motor function test', 'timeFrame': '1-6 years', 'description': 'Motor function test (GMFM-88) as assessed by experience physiotherapy.'}, {'measure': 'GAA enzyme level', 'timeFrame': '1-6 years', 'description': 'Self-collected blood samples (on a Guthrie card) for lysosomal enzyme acid alpha-glucosidase (GAA) blood levels.'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'conditions': ['Pompe Disease Infantile-Onset']}, 'descriptionModule': {'briefSummary': 'Our aims are to investigate the acute and long term effect of ERT on exercise capacity; comparing the effect of different ERT dosages (as prescribed by the clinician according to clinical judgment) and assessing the relationship between enzyme blood level and exercise capacity. Such evaluation may allow a more objective quantification of the response to ERT.', 'detailedDescription': 'Pompe disease is a rare autosomal recessive metabolic myopathy caused by reduced or absence activity of the lysosomal enzyme acid alpha-glucosidase (GAA). Enzyme replacement therapy (ERT) with Myozyme has significantly improved the prospect of patients with infantile Pompe disease (IPD). Most IPD patients show clinical improvement on therapy, but deteriorate at different time points, raising the possibility that increasing drug delivery might halt the progression of the disease. Data on the effects of ERT therapy on physiological variables related to exercise tolerance is scarce.\n\nOur aims are to investigate the acute and long term effect of ERT on exercise capacity; comparing the effect of different ERT dosages (as prescribed by the clinician according to clinical judgment) and assessing the relationship between enzyme blood level and exercise capacity. Such evaluation may allow a more objective quantification of the response to ERT.\n\nMethods: A retrospective - prospective study evaluating pediatric patients with Pompe before and 2 days after ERT on multiple occasions and different dosing. Evaluation included cardiopulmonary exercise testing (CPET), 6 minute-walking test (6MWT), motor function test (GMFM-88) and self-collected blood samples (on a Guthrie card) for enzyme blood levels.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT'], 'maximumAge': '18 Years', 'minimumAge': '5 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': "Children with Pompe disease who are followed at Ruth Children's Hospital will be evaluated. Diagnosis is confirmed in all cases by deficient GAA activity in cultured fibroblasts or by Ultra Performance Liquid Chromatography - Tandem Mass Spectrometer (UPLC-MS/MS) in DBS and mutational analysis of genomic DNA, isolated from peripheral blood leukocyte.", 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Pompe patients \\>5 years that have been on alpha-glucosidase (GAA).\n\nExclusion Criteria:\n\n* Oxygen saturation \\> 90% in room air without ventilatory assistance.\n* Patients will be excluded if they required any invasive ventilation or if they required noninvasive ventilation while awake and upright'}, 'identificationModule': {'nctId': 'NCT04755751', 'briefTitle': 'Exercise Capacity in Response to Enzyme Replacement Therapy in Pediatric Pompe Disease.', 'organization': {'class': 'OTHER', 'fullName': 'Rambam Health Care Campus'}, 'officialTitle': 'Acute and Long Term Evaluation of Exercise Capacity in Response to Enzyme Replacement Therapy in Pediatric Pompe Disease.', 'orgStudyIdInfo': {'id': 'RMB-045-18'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Pediatric Pompe patients', 'description': 'A retrospective - prospective study evaluating pediatric patients with Pompe before and 2 days after ERT on multiple occasions and different dosing. Evaluation included cardiopulmonary exercise testing (CPET), 6 minute-walking test (6MWT), motor function test (GMFM-88) and self-collected blood samples (on a Guthrie card) for enzyme blood levels.', 'interventionNames': ['Diagnostic Test: Cardiopulmonary exercise testing (CPET)']}], 'interventions': [{'name': 'Cardiopulmonary exercise testing (CPET)', 'type': 'DIAGNOSTIC_TEST', 'description': "CPET using a cycle ergometer (COSMED, Rome, Italy) beginning with a no resistance warm up lasting 1 to 3 minutes and followed with an incrementing resistance adapted to the patient's functional capacities according to the examiner's free judgment and ranging from no resistance (20 Rounds Per Minute (RPM)/minute) 5 to 20 Watts/minute on ramps or by successive stages", 'armGroupLabels': ['Pediatric Pompe patients']}]}, 'contactsLocationsModule': {'locations': [{'city': 'Haifa', 'status': 'RECRUITING', 'country': 'Israel', 'contacts': [{'name': 'Ronen Bar-Yoseph, MD', 'role': 'CONTACT', 'email': 'r_bar-yoseph@rmc.gov.il', 'phone': '+972-4-7774360'}], 'facility': 'Rambam Medical Center', 'geoPoint': {'lat': 32.81303, 'lon': 34.99928}}], 'centralContacts': [{'name': 'Lea Bentur', 'role': 'CONTACT', 'email': 'l_bentur@rambam.health.gov.il', 'phone': '+972-4-7774360'}], 'overallOfficials': [{'name': 'Lea Bentur', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Rambam'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO', 'description': 'IPD is not planned to be available.'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Rambam Health Care Campus', 'class': 'OTHER'}, 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Head of Pediatric Pulmonary Institute', 'investigatorFullName': 'l_bentur', 'investigatorAffiliation': 'Rambam Health Care Campus'}}}}